Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4314
Gene Symbol: MMP3
MMP3 		0.010 GeneticVariation phenotype LHGDN MMP3 sequence variation was significantly associated with variation in leukoaraiosis volume in Whites. 17024375 2007
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		0.010 GeneticVariation phenotype LHGDN MMP9 sequence variation was also significantly associated with variation in leukoaraiosis volume in both African-Americans and Whites. 17024375 2007
Entrez Id: 1636
Gene Symbol: ACE
ACE 		0.010 GeneticVariation phenotype LHGDN The APO E 2/2 and 2/3 or APO E 4/4 and 4/3 genotypes in combination with the MTHFR 677TT or ACE D/D mutation exhibited independent genetic risks of leukoaraiosis. 14763962 2004
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.010 GeneticVariation phenotype LHGDN The APO E 2/2 and 2/3 or APO E 4/4 and 4/3 genotypes in combination with the MTHFR 677TT or ACE D/D mutation exhibited independent genetic risks of leukoaraiosis. 14763962 2004
Entrez Id: 348
Gene Symbol: APOE
APOE 		0.010 GeneticVariation phenotype LHGDN On the assumption of further genetic interactions, we have now investigated whether the different apolipoprotein E (APO E) genotypes, in pairwise combinations with the MTHFR 677TT or ACE D/D mutation, could lead to an increased risk of leukoaraiosis. 14763962 2004
Entrez Id: 4846
Gene Symbol: NOS3
NOS3 		0.010 GeneticVariation phenotype LHGDN We determined the role of 3 potentially functional eNOS polymorphisms (T-786C, intron 4ab, G894T) located toward the 5' flanking end of the gene as risk factors for SVD and different SVD subtypes: isolated lacunar infarction (n=137) and ischemic leukoaraiosis (n=160). 14963277 2004
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 GeneticVariation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.100 CausalMutation phenotype CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
Entrez Id: 3064
Gene Symbol: HTT
HTT 		0.100 Biomarker phenotype HPO
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		0.100 Biomarker phenotype HPO
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1 		0.100 Biomarker phenotype HPO
Entrez Id: 55739
Gene Symbol: NAXD
NAXD 		0.100 Biomarker phenotype HPO
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		0.100 Biomarker phenotype HPO
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.100 Biomarker phenotype HPO
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL 		0.100 Biomarker phenotype HPO
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.100 Biomarker phenotype HPO
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.100 Biomarker phenotype HPO
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1 		0.100 Biomarker phenotype HPO
Entrez Id: 7084
Gene Symbol: TK2
TK2 		0.100 Biomarker phenotype HPO
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 Biomarker phenotype HPO